ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2241C>T (p.Gly747=)

gnomAD frequency: 0.00005  dbSNP: rs745440847
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000555911 SCV000631640 likely benign Ehlers-Danlos syndrome, type 4 2024-01-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525575 SCV001735738 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001525575 SCV003999770 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-05-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000555911 SCV004825398 likely benign Ehlers-Danlos syndrome, type 4 2023-12-14 criteria provided, single submitter clinical testing

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